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Mutations on the Protein: P27986 From Positions: 471 To 507

2
1
0
1


Swiss-Prot Disease: VAR_070221
p.GLU489LYS
N/A
N/A
SHORT syndrome (SHORTS)


OMIM Disease: 171833.0003
p.GLU489LYS
N/A
N/A
SHORT SYNDROME






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